L. Rosser

Population based study of late onset cerebellar ataxia in south east Wales

D Ravine, P S Harper, C. Wiles, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Matthew J. Daniels, N. Ashley, M. Zeviani, 2017, Neurology.

Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity

A. Clarke, C. Wallgren‐Pettersson, B. Jasani, 1993, Journal of the Neurological Sciences.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

Methylation analysis of the fragile X syndrome by PCR.

D. Ledbetter, B. Popovich, T. Arinami, 1997, Genetic testing.

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

E. Ormerod, G. Houge, T. Prescott, 2007, American journal of medical genetics. Part A.